7-85055645-CATATATATATATATATAT-C

Position:

• chr7-85055645-CATATATATATATATATAT-C

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The NM_001384900.1(SEMA3D):​c.861+54_861+71delATATATATATATATATAT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0353 in 158,472 control chromosomes in the GnomAD database, including 36 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0068 (4 hom., cov: 0)
  • Exomes 𝑓: 0.10 (32 hom.)
• Consequence: SEMA3D NM_001384900.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.718

Genes affected

SEMA3D (HGNC:10726): (semaphorin 3D) This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

SEMA3D (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAdExome4 highest subpopulation (MID) allele frequency at 95% confidence interval = 0.104 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SEMA3D	NM_001384900.1	c.861+54_861+71delATATATATATATATATAT		intron_variant		ENST00000284136.11	NP_001371829.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SEMA3D	ENST00000284136.11	c.861+54_861+71delATATATATATATATATAT		intron_variant		5	NM_001384900.1	ENSP00000284136.6
SEMA3D	ENST00000444867.1	c.861+54_861+71delATATATATATATATATAT		intron_variant		1		ENSP00000401366.1
SEMA3D	ENST00000463315.1	n.49+54_49+71delATATATATATATATATAT		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.00675 AC: 754 AN: 111634 Hom.: 4 Cov.: 0

Gnomad AFR AF: 0.00788

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0125

Gnomad ASJ AF: 0.000678

Gnomad EAS AF: 0.00221

Gnomad SAS AF: 0.00266

Gnomad FIN AF: 0.00274

Gnomad MID AF: 0.0144

Gnomad NFE AF: 0.00633

Gnomad OTH AF: 0.00618

GnomAD4 exome AF: 0.103 AC: 4832 AN: 46836 Hom.: 32 AF XY: 0.101 AC XY: 2736 AN XY: 27076

Gnomad4 AFR exome AF: 0.0770

Gnomad4 AMR exome AF: 0.0763

Gnomad4 ASJ exome AF: 0.0959

Gnomad4 EAS exome AF: 0.0244

Gnomad4 SAS exome AF: 0.0940

Gnomad4 FIN exome AF: 0.0851

Gnomad4 NFE exome AF: 0.107

Gnomad4 OTH exome AF: 0.105

GnomAD4 genome AF: 0.00678 AC: 757 AN: 111636 Hom.: 4 Cov.: 0 AF XY: 0.00675 AC XY: 350 AN XY: 51822

Gnomad4 AFR AF: 0.00797

Gnomad4 AMR AF: 0.0125

Gnomad4 ASJ AF: 0.000678

Gnomad4 EAS AF: 0.00222

Gnomad4 SAS AF: 0.00267

Gnomad4 FIN AF: 0.00274

Gnomad4 NFE AF: 0.00633

Gnomad4 OTH AF: 0.00613

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs56131427; hg19: chr7-84684961;